Article
Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients.
Biochemical and biophysical research communications - 15 Feb 1993
Mitsuuchi Y, Kawamoto T, Miyahara K, Ulick S, Morton D H, Naiki Y, Kuribayashi I, Toda K, Hara T, Orii T
Abstract excerpt
CYP11B2, the gene coding for steroid 18-hydroxylase (P-450C18), has been recently shown to be the same gene as that for corticosterone methyl oxidase type I and type II (CMO I & II) which were previously postulated to catalyze the final two steps in the biosynthesis of aldosterone in humans. Molecular genetic analysis of CYP11B2 of three patients affected with CMO I deficiency has revealed that deletion of 5...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.